Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis type 1 | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | autosomal dominant intellectual developmental disorder 7 | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | developmental and epileptic encephalopathy 1 | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | developmental and epileptic encephalopathy 53 | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23804563 more ... | genetic disease | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11413010 more ... | Parkinson's disease 20 | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:11413010 more ... | ZTTK Syndrome | | ISO | SYNJ1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ZTTK syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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